P14T (p.Pro14Thr) variant of TBX5 (T-box transcription factor TBX5)
P14T (p.Pro14Thr) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- rs773397553
- ClinGen CA6809738
- ClinVar RCV000515608
- ExAC rs773397553
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.65
- CADD 27.90
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available